Canonical Allele Identifier: CA366319618

Gene: IGF2R

Linked Data

• gnomAD v4: 6-160032962-G-A
• MyVariant Identifiers: chr6:g.160453994G>A (hg19) ; chr6:g.160032962G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160032962G>A , CM000668.2:g.160032962G>A	GRCh38
NC_000006.11:g.160453994G>A , CM000668.1:g.160453994G>A	GRCh37
NC_000006.10:g.160373984G>A	NCBI36
NG_011785.3:g.68864G>A
NG_011785.4:g.68864G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356956.6:c.1066G>A MANE Select	ENSP00000349437.1:p.Gly356Arg
ENST00000649737.1:n.303G>A
ENST00000676781.1:c.1066G>A	ENSP00000504419.1:p.Gly356Arg
ENST00000677704.1:c.1066G>A	ENSP00000503314.1:p.Gly356Arg
ENST00000356956.5:c.1066G>A	ENSP00000349437.1:p.Gly356Arg
NM_000876.2:c.1066G>A	NP_000867.2:p.Gly356Arg
XR_942419.1:n.1081G>A
NM_000876.3:c.1066G>A	NP_000867.2:p.Gly356Arg
NM_000876.4:c.1066G>A MANE Select	NP_000867.3:p.Gly356Arg